Incidental Mutation 'R1238:Pdia3'
| ID |
152488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia3
|
| Ensembl Gene |
ENSMUSG00000027248 |
| Gene Name |
protein disulfide isomerase associated 3 |
| Synonyms |
PDI-Q2, ERp57, ERp60, ERp61, Grp58, PDI, Plca, Erp |
| MMRRC Submission |
039305-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121244383-121269168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121262858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 275
(G275S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028683]
[ENSMUST00000135079]
|
| AlphaFold |
P27773 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028683
AA Change: G275S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
AA Change: G275S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
26 |
131 |
5.2e-36 |
PFAM |
|
Pfam:Thioredoxin_6
|
160 |
355 |
2e-29 |
PFAM |
|
Pfam:Thioredoxin
|
377 |
483 |
9.5e-33 |
PFAM |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130450
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135079
|
| SMART Domains |
Protein: ENSMUSP00000119337
Gene: ENSMUSG00000027248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
3 |
105 |
5.1e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.4603 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die by E13.5 with minor changes in ER calcium capacity and unfolded protein response in mouse embryonic fibroblasts. Mice homozygous for a gene trap allele die prior to birth while heterozygous mice exhibit abnormalbone volume bone morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
G |
A |
14: 118,835,051 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
T |
A |
13: 60,932,451 (GRCm39) |
N78I |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,353,725 (GRCm39) |
Q819H |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cit |
T |
A |
5: 115,989,280 (GRCm39) |
F56I |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,835 (GRCm39) |
F222L |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,762,675 (GRCm39) |
A769V |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,397,909 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
T |
C |
10: 18,018,852 (GRCm39) |
R607G |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,817,338 (GRCm39) |
E745A |
probably benign |
Het |
| Eif1ad |
T |
G |
19: 5,420,111 (GRCm39) |
*171G |
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,264 (GRCm39) |
V246A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,482,908 (GRCm39) |
D146G |
probably damaging |
Het |
| Iqub |
C |
T |
6: 24,505,884 (GRCm39) |
R8H |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,282 (GRCm39) |
R1161H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,897,648 (GRCm39) |
S675P |
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,222 (GRCm39) |
V346E |
probably damaging |
Het |
| Or1j21 |
A |
T |
2: 36,683,601 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or7d11 |
T |
A |
9: 19,966,757 (GRCm39) |
M1L |
probably benign |
Het |
| P2rx1 |
A |
C |
11: 72,903,784 (GRCm39) |
K282T |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,274,758 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
A |
G |
10: 85,721,726 (GRCm39) |
I411V |
probably benign |
Het |
| Rnaset2b |
T |
C |
17: 7,256,169 (GRCm39) |
S12P |
probably damaging |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
| Slc25a21 |
T |
A |
12: 56,785,272 (GRCm39) |
I202F |
probably benign |
Het |
| Tcfl5 |
A |
G |
2: 180,264,440 (GRCm39) |
V472A |
probably benign |
Het |
| Ttc12 |
A |
T |
9: 49,369,487 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
T |
G |
5: 87,073,988 (GRCm39) |
I124L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 9,997,763 (GRCm39) |
N357K |
probably benign |
Het |
|
| Other mutations in Pdia3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Pdia3
|
APN |
2 |
121,244,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00777:Pdia3
|
APN |
2 |
121,260,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02020:Pdia3
|
APN |
2 |
121,266,900 (GRCm39) |
splice site |
probably null |
|
|
IGL02437:Pdia3
|
APN |
2 |
121,264,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Pdia3
|
UTSW |
2 |
121,260,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Pdia3
|
UTSW |
2 |
121,264,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Pdia3
|
UTSW |
2 |
121,244,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Pdia3
|
UTSW |
2 |
121,244,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0880:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1157:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Pdia3
|
UTSW |
2 |
121,262,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Pdia3
|
UTSW |
2 |
121,262,144 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1854:Pdia3
|
UTSW |
2 |
121,262,144 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2014:Pdia3
|
UTSW |
2 |
121,265,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Pdia3
|
UTSW |
2 |
121,264,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4160:Pdia3
|
UTSW |
2 |
121,244,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Pdia3
|
UTSW |
2 |
121,244,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5032:Pdia3
|
UTSW |
2 |
121,244,620 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5279:Pdia3
|
UTSW |
2 |
121,244,484 (GRCm39) |
unclassified |
probably benign |
|
|
R5598:Pdia3
|
UTSW |
2 |
121,244,611 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5815:Pdia3
|
UTSW |
2 |
121,266,892 (GRCm39) |
nonsense |
probably null |
|
|
R7162:Pdia3
|
UTSW |
2 |
121,260,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7729:Pdia3
|
UTSW |
2 |
121,262,838 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0012:Pdia3
|
UTSW |
2 |
121,266,426 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGGACCCATTACCTCTTACAGTG -3'
(R):5'- GCAGTTTCTGGAGCTATGTGTTCCC -3'
Sequencing Primer
(F):5'- GCATTGTGTTGATAATGACTTCCTC -3'
(R):5'- gtccagattagccacaaattcag -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation